Diastrophic dysplasia in a seven-year-old girl. Case study.

Diastrophic dysplasia is a rare genetic disorder characterised by short limbs and deformities of several joints occurring in conjunction with abnormal spinal curvatures, impaired metacarpal modelling and so-called hitchhiker thumbs. The condition is progressive and leads to considerable physical disability. It continues to constitute a challenge for doctors as the outcomes of corrective orthopaedic surgery are limited.